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Alpha-Thalassemia in Southern Italy: Characterization of Five New Deletions Removing the Alpha-Globin Gene Cluster.
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- International Journal of Molecular Sciences, 2023, v. 24, n. 3, p. 2577, doi. 10.3390/ijms24032577
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- Article
α-Thalassemia Associated with Hb Instability: A Tale of Two Features. The Case of Hb Rogliano or α1 Cod 108(G15)Thr→Asn and Hb Policoro or α2 Cod 124(H7)Ser→Pro.
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- PLoS ONE, 2015, v. 10, n. 3, p. 1, doi. 10.1371/journal.pone.0115738
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- Article
Functional analysis of three new alpha-thalassemia deletions involving MCS-R2 reveals the presence of an additional enhancer element in the 5' boundary region.
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- PLoS Genetics, 2023, v. 19, n. 5, p. 1, doi. 10.1371/journal.pgen.1010727
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- Article
WTAP and BIRC3 are involved in the posttranscriptional mechanisms that impact on the expression and activity of the human lactonase PON2.
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- Cell Death & Disease, 2020, v. 11, n. 5, p. 1, doi. 10.1038/s41419-020-2504-2
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- Article
Assessment of Platelet Aggregation and Thrombin Generation in Patients with Familial Chylomicronemia Syndrome Treated with Volanesorsen: A Cross-Sectional Study.
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- Biomedicines, 2024, v. 12, n. 9, p. 2017, doi. 10.3390/biomedicines12092017
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- Article
mRNA Analysis of Frameshift Mutations with Stop Codon in the Last Exon: The Case of Hemoglobins Campania [α1 cod95 (−C)] and Sciacca [α1 cod109 (−C)].
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- Biomedicines, 2021, v. 9, n. 10, p. 1390, doi. 10.3390/biomedicines9101390
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- Article
Calprotectin Levels and Neutrophil Count Are Prognostic Markers of Mortality in COVID-19 Patients.
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- Diagnostics (2075-4418), 2022, v. 12, n. 10, p. 2554, doi. 10.3390/diagnostics12102554
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- Article
Association of Very Rare NOTCH2 Variants with Clinical Features of Alagille Syndrome.
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- Genes, 2024, v. 15, n. 8, p. 1034, doi. 10.3390/genes15081034
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- Article
Impact of 12-SNP and 6-SNP Polygenic Scores on Predisposition to High LDL-Cholesterol Levels in Patients with Familial Hypercholesterolemia.
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- Genes, 2024, v. 15, n. 4, p. 462, doi. 10.3390/genes15040462
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- Article
Effect of Mutations on mRNA and Globin Stability: The Cases of Hb Bernalda/Groene Hart and Hb Southern Italy.
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- Genes, 2020, v. 11, n. 8, p. 870, doi. 10.3390/genes11080870
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- Article
Simplified Criteria for Identification of Familial Hypercholesterolemia in Children: Application in Real Life.
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- Journal of Cardiovascular Development & Disease (JCDD), 2024, v. 11, n. 4, p. 123, doi. 10.3390/jcdd11040123
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- Article